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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Bone Fragility with Contractures, Arterial Rupture, and Deafness
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Accession:DOID:9004209 term browser browse the term
Synonyms:exact_synonym: BCARD;   BCARD syndrome;   BONE ABNORMALITIES, CATARACT, ARTERIAL RUPTURE, AND DEAFNESS;   LH3 Deficiency;   Lysyl Hydroxylase 3 Deficiency;   PLOD3-RELATED CONDITION;   PLOD3-RELATED DISORDER;   bone fragility with contractures, arterial rupture, and deafness
 xref: MESH:C567320;   MIM:612394;   MONDO:0012892


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Bone Fragility with Contractures, Arterial Rupture, and Deafness term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:171,866,428...171,868,564
Ensembl chr 5:171,864,094...171,874,789 		JBrowse link
G B3gat3 beta-1,3-glucuronyltransferase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:215,246,453...215,253,033
Ensembl chr 1:215,246,482...215,266,876 		JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:9,023,667...9,032,742
Ensembl chr17:9,023,618...9,032,745 		JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:104,135,676...104,148,854
Ensembl chr10:104,135,682...104,148,698 		JBrowse link
G Chst3 carbohydrate sulfotransferase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:28,657,308...28,694,976
Ensembl chr20:28,657,308...28,694,526 		JBrowse link
G Csgalnact1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:25,761,946...26,097,306
Ensembl chr16:26,002,530...26,096,065 		JBrowse link
G Flnb filamin B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:19,392,212...19,525,278
Ensembl chr15:19,392,216...19,525,209 		JBrowse link
G Gorab golgin, RAB6-interacting ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:78,278,868...78,295,490
Ensembl chr13:78,278,871...78,295,488 		JBrowse link
G Gzf1 GDNF-inducible zinc finger protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:156,572,152...156,584,369
Ensembl chr 3:156,572,250...156,584,363 		JBrowse link
G Kif22 kinesin family member 22 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:191,065,875...191,080,955
Ensembl chr 1:191,065,875...191,080,878 		JBrowse link
G P4ha1 prolyl 4-hydroxylase subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:27,784,696...27,895,785
Ensembl chr20:27,845,141...27,895,404 		JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:58,738,734...59,115,252
Ensembl chr18:58,738,740...59,115,215 		JBrowse link
G Plod3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bone fragility with contractures, arterial rupture, and deafness | ClinVar Annotator: match by term: PLOD3-related disorder 		OMIM
CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:18834968 PMID:25741868 PMID:28492532 More... NCBI chr12:25,313,070...25,323,631
Ensembl chr12:25,313,072...25,323,631 		JBrowse link
G Ski Ski proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:170,995,851...171,064,957
Ensembl chr 5:170,995,851...171,064,957 		JBrowse link
G Xylt1 xylosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:181,078,222...181,361,047
Ensembl chr 1:181,078,222...181,361,047 		JBrowse link
G Xylt2 xylosyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:80,102,776...80,116,346
Ensembl chr10:80,102,873...80,116,257 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    Pathological Conditions, Signs and Symptoms 9149
      Anatomical Pathological Conditions 1890
        Spontaneous Rupture 17
          Bone Fragility with Contractures, Arterial Rupture, and Deafness 16
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      musculoskeletal system disease 4517
        connective tissue disease 3414
          bone disease 2876
            bone inflammation disease 1669
              arthropathy 1660
                Contracture 107
                  Bone Fragility with Contractures, Arterial Rupture, and Deafness 16
paths to the root